Varaico: Literature-Extracted Genetic Variants

COL19A1

102 papers

RefSeq Summary

This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not know...

Pfam Domains

Collagenaa 289–345UCSCCollagen triple helix repeat (20 copies)

Collagenaa 379–441UCSCCollagen triple helix repeat (20 copies)

Collagenaa 451–517UCSCCollagen triple helix repeat (20 copies)

Collagenaa 565–628UCSCCollagen triple helix repeat (20 copies)

Collagenaa 625–681UCSCCollagen triple helix repeat (20 copies)

Collagenaa 756–821UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XIX alpha 1 chain

HGNC Previous Name

collagen, type XIX, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001858.6

p.T4insFs

c.10dupA

Surrounding Variants

1 paper

NM_001858.6

p.W7*

c.20G>A

1 paper

NM_001858.6

p.W7*

c.21G>A

1 paper

NM_001858.6

p.S23A

c.67T>G

1 paper

NM_001858.6

p.V26I

c.76G>A